Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194723C>A , CM000666.2:g.186194723C>A | GRCh38 |
| NC_000004.11:g.187115877C>A , CM000666.1:g.187115877C>A | GRCh37 |
| NC_000004.10:g.187352871C>A | NCBI36 |
| NG_007965.1:g.8204C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.327+111C>A MANE Select | ENSP00000368079.4:n.327+111C>A | |
| ENST00000378802.4:c.327+111C>A | ENSP00000368079.4:n.327+111C>A | |
| NM_207352.3:c.327+111C>A | NP_997235.3:n.327+111C>A | |
| XM_005262935.2:c.327+111C>A | XP_005262992.1:n.327+111C>A | |
| XM_006714184.2:c.17+111C>A | XP_006714247.1:n.17+111C>A | |
| XM_005262935.4:c.327+111C>A | XP_005262992.1:n.327+111C>A | |
| XM_017008037.1:c.17+111C>A | XP_016863526.1:n.17+111C>A | |
| NM_207352.4:c.327+111C>A MANE Select | NP_997235.3:n.327+111C>A |